FB2026_03 , released September 17, 2026
Human Disease Model Report: pontocerebellar hypoplasia, type 2A
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General Information
Name
pontocerebellar hypoplasia, type 2A
FlyBase ID
FBhh0001452
Disease Ontology Term
Parent Disease
OMIM
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
Overview

This report describes pontocerebellar hypoplasia, type 2A (PCH2A), which is a subtype of pontocerebellar hypoplasia. The human gene implicated in this disease is TSEN54; this gene is implicated in several subtypes of pontocerebellar hypoplasia (MIM:608755). See the report for pontocerebellar hypoplasia, TSEN54-related (FBhh0001450) for information on experimental results using Drosophila models of this and related diseases.

[updated April 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: pontocerebellar hypoplasia
Symptoms and phenotype

Multiple subtypes of pontocerebellar hypoplasia have been described. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. [MedlinePlus, Pontocerebellar hypoplasia; 2022.04.16]

(FlyBase Curators, 2013-)

Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in abnormally small cerebellum and brainstem. [from MIM:607596; 2022.04.16]

(OMIM, 2013-)
Specific Disease Summary: pontocerebellar hypoplasia, type 2A
OMIM report

[PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A](https://omim.org/entry/277470)

Human gene(s) implicated

[tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54](https://omim.org/entry/608755)

Symptoms and phenotype

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993; pubmed:8147499). [from MIM:277470; 2022.04.16]

(OMIM, 2013-)
Genetics

Pontocerebellar hypoplasia type 2A (PCH2A) is caused by homozygous mutation in the TSEN54 gene. [from MIM:277470; 2022.04.16]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
PCH2A
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
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        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (2)